Web 2.0 + Medicine = Medicine 2.0: Featured Blogs

ScienceRoll and Medicine 2.0

Readers interested in casual discussions on the future of medicine at the cross-roads of genetics research, electronic medical records, and the internet will find plenty to read in recent blog entries using the terms "Medicine 2.0" or "Health 2.0". Advocates of the subject, include Bertalan Meskó, a medical student at the University of Debrecen (Hungary). Meskó, who monitors and writes about the topic in his blog ScienceRoll, holds that "the new generation of web services, will [play] (and already is playing) ... an important role in the future of medicine. These web tools, expert-based community sites, medical blogs and wikis can ease the work of physicians, scientists, medical students [and] ... medical librarians". In addition to regular posts on his blog, Meskó also edits a weekly blog carnival (an index or review of blog entries) on the subject, entitled Medicine 2.0. Mesko's ScienceRoll also contributes entries on genomics, clinical genetics, genetic testing, and personalized medicine.

"Medical Ethics 2.0"

Science Roll, July 19, 2007 and Medicine 2.0, hosted recently by J.C. Jones at HealthLine Connect were among several blogs citing "Medical Ethics 2.0", published July 16th by Jason Bobe at The Personal Genome . [Others citing Bobe include: Philosophy and Bioethics and The CEP Library.] Bobe discusses the possibility that future users of online genealogy services may begin to add medical information to their family trees. Following his review of the BMJ “Head-to-Head” feature: “Should families own genetic information?” [BMJ 2007;335:22 (7 July), doi:10.1136/bmj.39252.386030], he questions how user-generated genetic information and Web 2.0 technologies would complicate the ethical problems of privacy and disclosure.

Medical Ethics 3.0?

In "Health care eyes Web 3.0" (Government Health IT, 16 July 2006), Brian Robinson reports on developing Semantic Web technologies and their anticipated impact on the medical formatics and health care provision. The Semantic Web uses Resource Description Framework (RDF), Web Ontology Language, and other ontologies to "ascribe meaning to data depending on the context in which it is used". The Semantic Web is expected to provide, for example, the ability to "identify data related to age, weight and diseases, and ... then deliver that data based on the context of a query". Projects in development include: rules-based diagnostic decision-support systems for Partners HealthCare System (Boston) and a public health surveillance system under the direction of Parsa Mirhaji at the University of Texas Health Science Center at Houston.

In addition to Mirhaji, comments are provided from Dean Giustini (Biomedical Branch Library, University of British Columbia), Vipul Kashyap (Partners HealthCare), and Bob Shimp (Oracle's Global Technology Business Unit). The story does not, however, explore the social and ethical implications of the Semantic Web for medical research.

Smith-Lemli-Opitz Syndrome and a Florida “Wrongful Birth” Case

On July 23, 2007 a jury in Tampa awarded Daniel and Amara Estrada $21 million for a prenatal mis-diagnosis. The couple claimed that if the University of South Florida, Dr. Boris Kousseff had successfully diagnosed the genetic disorder, they would have terminated the pregnancy. The jury’s award is currently limited by state limits on negligence claims against public universities and other government agencies.

Greg Dahlmann, in yesterday’s posting on The American Journal of Bioethics’ editors’ blog (blog.bioethics.net) provides a comment on the use of the term "wrongful birth" and a brief summary of the case. blog.bioethics.net links to the following news sources:

Couple awarded $21 million in Florida 'wrongful birth' case. Tampa, Florida (AP). CNN.com/us, July 24, 2007.

For 'wrongful birth,' $23.5M: A jury sides with a family over a USF geneticist's "rotten advice." By Colleen Jenkins, St. Petersburg Times, July 24, 2007.

USF, Physician Liable For Botched Diagnosis. By Thomas W. Krause. The Tampa Tribune, July 24, 2007

A Wrongful Birth? By Elizabeth Weil. The New York Times Magazine, March 12, 2006.

A recent article by Carolyn Chachkin, What potent blood: non-invasive prenatal genetic diagnosis and the transformation of modern prenatal care, published in the American Journal of Law & Medicine (2007. Vol. 33, No. 1, 9-53) provides a review of the many ethical, legal and social implications of prenatal genetic diagnosis; these include “wrongful birth” lawsuits.

HIPSA: The Health Information Privacy and Security Act of 2007

Revising HIPAA
Yesterday, July 18, 2007, Senators Leahy and Kennedy introduced legislation to revise HIPAA. Although Section 215 makes disclosure exceptions for “Law Enforcement, National Security, and Intelligence”, the new bill would tighten HIPAA loopholes. The bill “requires that any health information intended to be used for medi[c]al research first be stripped of personally identifying information to protect an individual’s privacy”. Senator Leahy's website provides a copy of the statement and a summary of the legislation: http://leahy.senate.gov/press/200707/071807c.html

Additional Excerpts from Leahy’s Statement:

Our bill also requires that patients be notified of a data security breach involving their health information within 15 days of discovery of the breach. ....

[O]ur bill addresses the growing fear of many Americans that they will not be able to obtain important health information about a parent or child in situations involving a medical emergency, because of confusion about the requirements of current health privacy laws. ....

The bill also establishes a national office of health information privacy within the Department of Health and Human Services to aid American consumers in learning about their health privacy rights. ....

The bill makes it a federal crime to knowingly and intentionally disclose or use sensitive health information without an individual’s consent. Violators of this provision are subject to a criminal penalty of up to $500,000 and up to 10 years in prison, if the violation is committed with the intent to sell or use sensitive health information for economic gain.

To read the full statement and a summary of the legislation: Visit Sen. Leahy's press release at: http://leahy.senate.gov/press/200707/071807c.html

Related Press:
Sen. Leahy cites “Keeping Patients’ Details Private, Even From Kin”. July 3, 2007, The New York Times.

Also see: “Senators introduce stringent health records privacy bill”. Government Health IT, July 18, 2007.

Newborn Screening News and Resources from the March of Dimes

Nearly 90% of Babies Receive Recommended Newborn Screening Tests: State Programs Expand, But Half a Million Babies Still Not Screened for Serious Genetic Disorders

WHITE PLAINS, N.Y., JULY 11, 2007 - Nearly 90 percent of all babies born in the United States - more than double the percentage in 2005 - live in states that require screening for at least 21 life-threatening disorders, according to the latest March of Dimes Newborn Screening Report Card. [Read more ]

Related Resources: In addition to last week’s press release (excerpt above) visit the March of Dimes PeriStats site for related statistics, “report cards”, and basic GIS maps. For additional maps, including a U.S. map linked to state genetic services plans, visit a PeriStats collaborator, the National Newborn Screening and Genetics Resource Center.

Recent Blogs on Predictive Health Topics: Gene Expression; The Daily Transcript; Eye on DNA ...

Medical Records

A top-down approach to genetic networks. July 5, 2007. From p-ter at Gene Expression.
Comments on data mining health records to correlate hereditary disorders.

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Reviewing ENCODE

ENCODE. July 4, 2007. From Alex Palazzo at The Daily Transcript. A summary and critique, for the general reader, of: “Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project”. Nature 447, 799-816 (14 June 2007) doi:10.1038/nature05874.

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Ownership and Genetic Information

One Big Happy Family Genome, July 7, 2007. From Hsien-Hsien Lei at Eye on DNA. Lei comments on the BMJ “Head-to-Head” feature: “Should families own genetic information?” BMJ 2007;335:22 (7 July), doi:10.1136/bmj.39252.386030.AD.

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Translation

Towards a World without Genetic Diseases July 7, 2007. From Bertalan Meskó at ScienceRoll.
Mentions recent genetic research advances on muscular dystrophies and potential technologies to speed translation.

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Genetic Databases

Indian genetic database offers R&D advances, July 7, 2007. From Albin Paul at Microarray Blog. Describes the work of The Indian Genome Variation Consortium, including: “data on the genetic codes of over a 1,000 genes from among 15,000 individuals belonging to Indian sub-populations”.

Research: Communicating Genetic Information; Event: CDC--Translational Genetic Research

In the Literature: Communicating Genetic Information

Gaff, CL, et al. Process and outcome in communication of genetic information within families: a systematic review. European Journal of Human Genetics. [advance online publication 4 July 2007]; doi: 10.1038/sj.ejhg.5201883. http://www.nature.com/ejhg/journal/vaop/ncurrent/abs/5201883a.html

. . . . To understand the process by which communication occurs as well as its outcomes, a systematic review of actual communication in families about genetic risk was conducted. Findings from 29 papers meeting the inclusion criteria were summarised and are presented narratively. . . .

Gilbar, R. Communicating genetic information in the family: the familial relationship as the forgotten factor. Journal of Medical Ethics 33 (7), 390-3 (Jul 2007). pmid/17601865; doi/10.1136/jme.2006.017467. http://jme.bmj.com/cgi/content/abstract/33/7/390

. . . . Based on a legal and bioethical analysis on the one hand, and an examination of empirical studies on the other, this paper advocates the adoption of a relational perception of autonomy, which, in the context of genetics, takes into account the effect that any decision-whether to disclose or not to disclose-will have on the familial relationship and the dynamics of the particular family. . . .

Seminar Announced: “Closing the Gap Between Human Genome Discoveries and Population Health”. CDC Genomics, July 26, 2007.

Public Health Genomics Seminar Series: Closing the Gap Between Human Genome Discoveries and Population Health. http://www.cdc.gov/genomics/events/special1.htm

Session 6: But how do we translate new genetic knowledge into practice? 1-3 pm, ENVISION-Koger Center, Williams Bld, Room 1802/05. Centers for Disase Control and Prevention.

"How do we actually translate guidelines into action?" – Speaker: Jon Kerner, NCI
"What is the role of professional organizations, consumers, oversight and regulation?" -- Speaker: Kathy Hudson, Genetics and Public Policy Center, Johns Hopkins University.

[PredictER Note: Slides and video-casts will be posted following the event.]

Genetics and Predictive Health in the News, July 2-9, 2007

Colorectal and Prostate Cancer

Study identifies a common genetic risk factor for colorectal and prostate cancer. July 8, 2007. University of Southern California. Eurekalert: http://www.eurekalert.org/pub_releases/2007-07/uosc-sia070607.php
"[O]ne of seven genetic risk factors previously identified as increasing the probability of developing prostate cancer also increases the probability of developing colorectal cancer".

U-M, Israeli scientists report major advance in search for genes associated with colon cancer. July 8, 2007. University of Michigan Health System. Eurekalert: http://www.eurekalert.org/pub_releases/2007-07/uomh-uis070307.php
"In a paper to be published in the July issue of Cancer Biology and Therapy, the international research team reports finding a significant link between genetic variation in a single region of human chromosome 8 and the risk of colorectal cancer. . . . The researchers compared the genetic makeup and family history of more than 1,800 colorectal cancer patients with that of 1,900 healthy people with the same breakdown of age, gender and ethnicity - either Ashkenazi Jew, Sephardic Jew or Arab/non-Jew".

Genetic Testing

Publication Announcement: Comparison of State Laws for Direct-to-Consumer Testing. July 06, 2007. The Genetics and Public Policy Center. DNApolicy.org: http://www.dnapolicy.org/news.release.php?action=detail&pressrelease_id=81
"Despite increased attention to the potential of direct-to-consumer (DTC) genetic tests to mislead consumers or waste their money – including a Federal Trade Commission warning in July 2006 – 26 states and the District of Columbia permit DTC laboratory testing without restriction, according to a new survey by the Genetics and Public Policy Center. .... [O]nly 13 states prohibit DTC testing, while 11 permit it only for specified categories of tests, which tend to exclude genetic tests".

Translational Research

$2 million Komen Award will fund research to reduce risk of breast cancer. July 5, 2007. Georgetown University Medical Center. Eurekalert: http://www.eurekalert.org/pub_releases/2007-07/gumc-mk070507.php
"Now that screening for genes that predispose a woman to breast cancer is routinely available, women at an increased risk are looking for ways to keep themselves healthy. Insoo Bae, PhD, a junior faculty member of the Lombardi Comprehensive Cancer Center at Georgetown University Medical Center received a $2 million research award from Susan G. Komen for the Cure . . . .

Bae . . . has developed a new methodology for studying the interaction between environmental carcinogens and genetic risk for breast cancer".

Asthma

Gene linked to childhood asthma: Scientists have identified a gene that is strongly associated with an increased risk of childhood asthma. July 4, 2007. BBC News: http://news.bbc.co.uk/go/pr/fr/-/1/hi/health/6261876.stm
"Studying more than 2,000 children, they pinpointed a gene called ORMDL3, which was found at higher levels in the blood cells of children with asthma. . . . Carrying a specific variant of this gene may increase the risk of developing asthma by up to 70%".

Reproductive Technologies

Pre-implantation genetic screening reduces both ongoing pregnancy and live birth rates in over 35s. European Society for Human Reproduction and Embryology, July 4, 2007. Eurekalert: http://www.eurekalert.org/pub_releases/2007-07/esfh-pgs070407.php
"Lyon, France: Preimplantation genetic screening (PGS), often considered to hold out the best chance for older women undergoing IVF to have a pregnancy and birth, does not increase on-going pregnancy or live birth rates ...."

Genomics

NIH Roadmap leads to genomics. Stewart, A. July 3, 2007. Newsletter, PHG Foundation:
http://www.phgfoundation.org/news/month/07/2007/#story_3497
"As part of its Roadmap strategy to tackle major opportunities and gaps in biomedical research, the US National Institutes of Health has published its latest list of priority research areas that cut across all 27 of its constituent institutes and centres. There is a clear focus on genomics . . . ."

Ethics and Regulation of Predictive Health Research: A New Translational Paradigm

PredictER at the Upcoming 9th Annual Meeting (October 18-21, 2007) of ASBH

PredictER faculty members and investigators will conduct a panel session on “Ethics and Regulation of Predictive Health Research: A New Translational Paradigm?” This panel will address the ethical, legal and social implications of predictive health research, focusing on the essentially collaborative and interdisciplinary nature of research on these issues. Topics include: pediatric biobanks; informed consent; regulatory protections; and patient understanding of risk and genetic information. For a complete abstract, see the American Society for Bioethics and Humanities program description: Ethics and Regulation of Predictive Health Research: A New Translational Paradigm?

Other Blogs of Interest: The Personal Genome; Eye On DNA; The Genetic Genealogist

From Jason Bobe's The Personal Genome: Genomics as a medical tool and lifestyle choice:
"Camping Around Health Insurance Discrimination".

People who offer solutions to the genetics and health insurance issue, tend to fall into three camps:

1. the patient advocates
2. the free-market purists
3. the ignotarians
I’ll take each in turn below ....

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From Hsien-Hsien Lei's Eye On DNA:
"Amerindian DNA Sells for 55 Dollars".

Clearly, scientists and others asking indigenous populations to donate biological samples need to do a better of job of communicating the overarching goals and benefits such studies can achieve. Judith Greenberg, director of genetics and developmental biology at the National Institute of General Medical Sciences:

This is sort of a balancing act. We don’t want to do something that makes a whole tribe or people unhappy or angry. On the other hand, the scientific community is using these samples, which were accepted and maintained under perfectly legitimate procedures, for the benefit of mankind.

Legitimate for us maybe, but not necessarily for the Karitiana people.

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From Blaine Bettinger's The Genetic Genealogist:
The Genographic Project Public Participation Mitochondrial DNA Database:

An overview of-- The Genographic Project Public Participation Mitochondrial DNA Database. Behar DM, Rosset S, Blue-Smith J, Balanovsky O, Tzur S, et al. PLoS Genetics Vol. 3, No. 6, e104. doi:10.1371/journal.pgen.0030104.
Bettinger notes: "This paper is all about the mtDNA sequences they have obtained through the project. In the first 18 months of the project, they have collected an amazing 78,590 mtDNA genotypes!!"